285 research outputs found

    MAPPING BCR-ABL1 FUSION POINTS IN CHRONIC MYELOID LEUKEMIA BY NEXT GENERATION SEQUENCING

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    Chronic myeloid leukemia (CML) is a myeloproliferative disorder cytogenetically characterized by a reciprocal translocation between the long arms of chromosome 9 and 22 t(9;22) that leads to the formation of the BCR-ABL1 fusion gene, coding for a deregulated tyrosine kinase with oncogenic activity. In clinical routine, mRNA amount of the chimeric transcript is considered proportional to the leukemic clone and is used for the molecular monitoring of patients. However, qRT-PCR cannot identify transcriptionally silent leukemic cells that can be present in minimal residual disease (MRD). To monitor MRD it is necessary to develop a qPCR assay on DNA sequences spanning BCR-ABL1, that are patient specific. Previous results obtained by Prof. G. Porta’s group (unpublished) have demonstrated that DNA detection is positive while mRNA is not in 30% of time points, indicating the presence of transcriptionally silent cells. Breakpoints in these patients were characterized by laborious long-range PCR and cloning not suitable for a clinical application. To overcome this limiting step we set up a DNA capturing assay to target all kind of breakpoints that give rise to different BCR-ABL1 transcripts. Captured regions were then sequenced with a next generation protocol. The idea was to use the identified patient specific breakpoints to setup qPCR assays to monitor MRD. We successfully identified BCR-ABL1 fusion points in 9 over 10 samples, with single nucleotide accuracy, by setting up a bioinformatics workflow specifically developed for this purpose. All findings were validated with Sanger sequencing. This project was performed in collaboration with Prof. Giovanni Porta of University of Insubria

    Terricolous lichen communities in Thero-Airion dry grasslands of the Po Plain (Northern Italy): syntaxonomy, ecology and conservation value

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    Terricolous lichen vegetation has been partially studied in Italy so far, particularly in the Po Plain. Here, pioneer acidic Thero-Airion dry grasslands host rich terricolous lichen communities which often include lichen species of conservation concern. Overall, 288 phytosociological releves were carried out with the Braun-Blanquet method using standard plots of 30 cm x 30 cm in lichen-rich stands within Thero-Airion dry grasslands located in 16 localities of the western Po Plain, an area with continental climate. Releves were manually sorted and species composition was analyzed through Principal Component Analysis (PCA) and non-parametric MANOVA. Biological, ecological, chorological and rarity spectra were computed and analyzed with Kruskal-Wallis tests to assess differences among the communities. Nine lichen communities were recognized. One community dominated by Cladonia pulvinata referred to the Pycnothelio-Cladonietum cervicornis. Three communities referred to the Cladonietum foliaceae are dominated respectively by C. foliacea, C. furcata and C. rangiformis. Three communities referred to the Cladonietum rei are dominated respectively by C. rei, C. polycarpoides and C. coccifera. Two communities dominated respectively by C. peziziformis and C. cariosa are referred to an undescribed association, temporarily attributed to the Cladonion rei. All communities significantly differ in the mean ecological indicator values - soil pH, light, aridity, eutrophication, poleotolerance. The communities Pycnothelio-Cladonietum cervicornis, Cladonietum foliaceae (C. foliacea facies) and the C. peziziformis-C. cariosa community are pioneer communities. The Cladonietum rei (C. rei facies) and the Cladonietum foliaceae (C. rangiformis facies) are the more mature communities, respectively in disturbed and undisturbed sites. This study shows that terricolous lichen communities represent an important component of biodiversity in Thero-Airion dry grasslands, due to their diversification in different syntaxa and, in some cases, to their role as microhabitats for lichen species of conservation concern. Thus, our study contributes to the knowledge on Thero-Airion dry grasslands, which is a key component in the choice of management and conservation strategies

    Pharmacogenomics considerations in the control of hypertension

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    The response to antihypertensive therapy is very heterogeneous and the need by the physicians to account for it has driven much interest in pharmacogenomics of antihypertensive drugs. The Human Genome Project and the initiatives in genomics that followed, generated a huge number of genetic data that furnished the tools to explore the genotype-phenotype association in candidate genes and at genome-wide level. In spite of the efforts and the great number of publications, pharmacogenomics of antihypertensive drugs is far from being used in clinical practice. In this review, we analyze the main findings available in PubMed from 2010 to 2015, in relation to the major classes of antihypertensive drugs. We also describe a new Phase II drug that targets two specific hypertension predisposing mechanisms

    Network analysis of phenological units to detect important species in plant-pollinator communities: can it inform conservation strategies?

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    Conservation of species is often focused either only on those that are endangered, or on maximising the number recorded on species lists. However, species share space and time with others, thus interacting and building frameworks of relationships that can be unravelled by community-level network analysis. It is these relationships that ultimately drive ecosystem function via the transfer of energy and nutrients. However interactions are rarely considered in conservation planning. Network analysis can be used to detect key species ("hubs") that play an important role in cohesiveness of networks. We applied this approach to plant-pollinator communities on two montane Northern Apennine grasslands, paying special attention to the modules and the identity of hubs. We performed season-wide sampling and then focused the network analyses on time units consistent with plant phenology. After testing for significance of modules, only some modules were found to be significantly segregated from others. Thus, networks were organized around a structured core of modules with a set of companion species that were not organized into compartments. Using a network approach we obtained a list of important plant and pollinator species, including three Network Hubs of utmost importance, and other hubs of particular biogeographical interest. By having a lot of links and high partner diversity, hubs should convey stability to networks. Due to their role in the networks, taking into account such key species when considering the management of sites could help to preserve the greatest number of interactions and thus support many other species

    A comparison of IHA and ELISA tests in the detection of antibodies to entamoeba histolytica

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    In this report we have evaluated the sensitivity and specificity of IHA and ELISA for the detection of anti-amebic antibodies in the serum samples of 147 patients with poor mental and hygienic status hospitalized in mental institutions. Our data have demonstrated a positive agreement between ELISA and IHA on positive sera. The major drawback of IHA is the occurrence of false negative results, 13/82 sera negative in IHA (less than 1/128) are positive in the ELISA. Furthermore, the ELISA is useful for serological diagnosis of amebiasis in the laboratories of low endemic areas

    Early Intervention Programme for Young Adults in Northern Italy: A 10-Year Analysis of Socio-Demographic and Clinical Characteristics

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    Introduction: Early intervention represents an opportunity to contain psychological distress and intervene promptly on conditions that, otherwise, could assume a chronic course. Based on these observations, an early intervention programme for people 18-25 years old, the 'Progetto Giovani' (Youth Project), was implemented in two adult mental health services (AMHSs) in the northwest of Italy. Methods: This study aims to describe the socio-demographic and clinical characteristics of the patients included in the Youth Project from 1 January 2013 to 31 December 2022. A retrospective observational design was used. Results: In 10 years, 323 patients were taken into care. More than half (56.3%) were females; the mean age was 20.7 years (SD 2.3). The most frequent diagnosis was anxiety disorder (38%). Seventy per cent of subjects benefitted from psychological treatment, and 60.8% had a pharmacological prescription. In 87.8% of cases, the care pathway was ≤ 24 months, and more than two-thirds of the subjects did not go to another AMHS after discharge. More than 90% of subjects did not require hospitalisation in the psychiatric diagnostic and treatment service. Conclusions: These findings suggest that early intervention programmes may be a valuable tool for AMHSs to improve patient outcomes and reduce the burden on the healthcare system
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